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EDITORS DESK |
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From the Editor's Desk |
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T Smitha DOI:10.4103/0973-029X.252741 PMID:30967713 |
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CASE REPORTS - LYMPHOPROLIFERATIVE DISORDERS |
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Monocytoid B cell lymphoma: A case report and evaluation |
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Adesh Singh Manchanda, Ramandeep Singh Narang, Harshveer Kaur DOI:10.4103/jomfp.JOMFP_101_17 PMID:30967714
Lymphomas are a group of malignant blood cell tumors that develop from lymphocytes. Two main categories of lymphomas are Hodgkin and non-Hodgkin lymphomas (NHL), of which 90% are of the NHL type. The objectives of classifying is to help in the identification of homogenous group of well-defined entities and facilitating the recognition of uncommon diseases that further require classification as it affects prognosis and therapeutic implications. Nodal marginal zone lymphoma, also known as monocytoid B–cell lymphoma (MBCL), is an uncommon form of lymphoma representing 1.5%–1.8% of lymphoid neoplasms, with only rare reports in the literature that have attempted morphologic or immunophenotypic characterization. Specific markers for MBCLs are still lacking, so its diagnosis is based on exclusion of other small B-cell lymphomas. This article illustrates a case report of MBCL highlighting the intricacies and difficulties involved in establishing a diagnosis.
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Evaluation of a case of diffuse large B-cell lymphoma |
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Ramandeep Singh Narang, Adesh Singh Manchanda, Harshveer Kaur DOI:10.4103/jomfp.JOMFP_100_17 PMID:30967715
Lymphomas are a group of malignant blood cell tumors that develop from lymphocytes representing 2.2% of all malignant neoplasms of the head and neck. Two main categories of lymphomas are Hodgkin's lymphoma and non-Hodgkin's lymphoma (NHL) of which 90% are of the NHL type. Several classification systems have existed for lymphomas, the objectives of which are to help in identification of homogeneous group of well-defined entities and facilitating the recognition of uncommon diseases that require further classification as it affects prognosis and therapeutic implications. Diffuse large B-cell lymphoma (DLBCL) is the most common NHL in the oral cavity involving Waldeyer's ring, base of the tongue, buccal mucosa and hard palate. DLBCL can be divided into germinal center B-cell-like, activated B-cell-like or type 3 gene expression profiles. This paper highlights a case report of DLBCL revisiting the intricacies and difficulties involved in establishing a diagnosis.
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Lymphoma in an extraction socket |
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Neeharika Mortha, Sumit Majumdar, Divya Uppala, Sreekanth Kotina DOI:10.4103/jomfp.JOMFP_215_18 PMID:30967716
Non-Hodgkin's lymphoma (NHL) is a lymphoproliferative malignancy that can involve both lymph node and lymphoid organs as well as extranodal organs and tissues. The aim of presenting this case of NHL is to highlight the suspicion of its occurrence in the region of unhealed extraction sockets and the significance of its awareness. NHL can be presented in various forms; therefore, a thorough knowledge regarding this malignancy is essential for arriving at the earliest possible diagnosis and therapy for the patient.
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Physical torment: A predisposition for diffuse B-cell lymphoma |
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HK Puneeth, S Ravi Raja Kumar, Anuradha Ananthaneni, Ananth Nag Jakkula DOI:10.4103/jomfp.JOMFP_7_18 PMID:30967717
Lymphomas of the oral cavity are rare and represent only 3%–5% of all lymphomas. Diffuse large B-cell lymphomas (DLBCLs) are a heterogeneous group of tumor and the most common type of all non-Hodgkin's lymphomas (NHLs). They mostly arise from soft tissue as asymptomatic swelling and involvement of jaw bones is infrequent. We present a case of a 23-year-old patient who developed DLBCL in oral cavity region 4 months after blunt trauma. The patient lacked other physical symptoms at the time of presentation. Histopathology, bone marrow and immunohistochemistry revealed DLBCL. After chemotherapy of eight cycles, swelling was totally reduced and no relapse observed in 10 months' follow-up period. Thus, the present report represents an example of possible rapport between trauma and unresolved soft-tissue swelling which may be caused by NHLs.
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CASE REPORTS- SOFT TISSUE LESIONS |
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Solitary neurofibroma of the palate mimicking mucocele: A rare case report |
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Prasanna Sekhar, G Nandhini, K Raj Kumar, A Ramesh Kumar DOI:10.4103/jomfp.JOMFP_196_18 PMID:30967718
Neurofibroma is a benign, slow-growing, peripheral nerve neoplasm. It presents as a solitary tumor or component of neurofibromatosis (NF) and von Recklinghausen's disease. The occurrence of solitary neurofibromas in the oral cavity is less frequent, and those in the palate are reported in less numbers. This report describes an unusual case of solitary neurofibroma in the hard palate which clinically mimicked a mucocele.
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Palatal swelling in a young adult  |
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S Shamala Ravikumar, V Saranya, K Chandramohan DOI:10.4103/jomfp.JOMFP_192_18 PMID:30967719
The presence of numerous minor salivary gland tissues in the posterior part of hard palate increases the possibility of salivary gland neoplasms. Minor salivary gland tumor accounts for about 15% of all the salivary gland neoplasms, of which mucoepidermoid carcinoma (MEC) accounts for about 35.9%. Although a wide range of the differential diagnosis is made by the clinicians toward a single palatal swelling without any other specific changes on inspection, a prompt “histopathological” diagnosis is of utmost importance in case of lesions like “MEC.” By taking the case study of a 23-year-old male patient who was complaining of difficulties in eating and speaking due to a swelling in the palate that was not associated with pain, etc., this case report highlights the need for an early clinical examination and prompt histopathological diagnosis of such clinically benign looking lesions, as such an action can play an ameliorating role in reducing the chances of postoperative morbidity.
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Giant arteriovenous malformation of the face and upper lip |
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Santosh Hunasgi, Anila Koneru, M Vanishree, Vardendra Manvikar DOI:10.4103/jomfp.JOMFP_185_18 PMID:30967720
A 35-year-old male patient reported with the chief complaint of a large swelling in the right side of the upper lip. The lesion measured 6.5 cm measuring from the infraorbital region to the lower border of mandible on the right side of the face and 7.5 cm from the right ear lobule to the contralateral commissure of the left side of the face. On palpation, the swelling was soft, fluctuant and compressible. Pulsations were felt, and on auscultation, bruit was also heard. Computed tomography angiogram of the neck and circle of Willis showed serpiginous hyperdense vascular channels causing significant soft-tissue thickening of the upper lip, right cheek region and philtrum. Hence, the diagnosis of diffuse subcutaneous facial arteriovenous malformation involving the right cheek and philtrum was given. The entire lesion was excised. In the postoperative 2nd month, secondary cosmetic correction or lip reconstruction was done. The patient was reviewed after 3 years; there was no recurrence of the lesion.
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A rare case of palatal schwannoma with literature review |
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Nalini Aswath, T Manigandan, S Leena Sankari, Lakshanika Yogesh DOI:10.4103/jomfp.JOMFP_242_16 PMID:30967721
Schwannoma or neurilemmoma is a benign, slow-growing nerve sheath tumor arising from Schwann cells of the cranial, peripheral or autonomic nerves. Approximately 25%–40% of schwannomas occur in the head and neck region. Occurrences of intraoral schwannomas are rare with reported prevalence being 1%. Intraorally, schwannomas occur in the tongue, palate, buccal mucosa, lips and gingiva. This article provides an insight into a rare case of palatal schwannoma with literature review.
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Cartilaginous choristoma of tongue: A rare case report |
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Shruti Semwal, Deepti Joshi, Vikas Gupta, Neelkamal Kapoor DOI:10.4103/jomfp.JOMFP_24_18 PMID:30967722
Choristomas are proliferation of normal cells or tissue in an abnormal location. Choristomas of oral soft tissue are rare lesions. Different tissues can occur in the oral cavity as choristomas. It can be cartilage, bone, salivary gland, glial and thyroid tissue. Choristomas with the proliferation of chondroid tissue are termed as cartilaginous choristomas. In oral cavity, they are most frequently seen in tongue followed by buccal mucosa and soft palate. We report a case of 40-year-old female presenting with hard lobulated swelling on the left lateral border of the tongue. Fine-needle aspiration cytology was performed which showed only myxoid stroma. Histopathological examination of excised specimen of the same showed lobules of mature hyaline cartilage. Thus, a diagnosis of cartilaginous choristoma was made.
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Insight into verruciform xanthoma with oral submucous fibrosis: Case report and review of literature |
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Ashalata Gannepalli, Amruta Appala, Lavanya Reddy, Dara Balaji Gandhi Babu DOI:10.4103/jomfp.JOMFP_210_18 PMID:30967723
Verruciform xanthoma (VX) is a rare benign mucocutaneous verrucopapillary lesion, which mainly involves masticatory mucosa and gingiva. Clinically, it presents as a solitary, sessile or pedunculated, white- or yellow-white-colored growth with a pebbled surface, hence often misdiagnosed as papilloma. The hallmark of histological diagnosis is the presence of foam cells or xanthoma cells confined to the connective tissue papillae. We present a case of VX on the maxillary gingiva in a 52-year-old male patient with oral submucous fibrosis (OSF) with a review on histopathology and concomitant oral lesions. The exact etiopathogenesis is not clearly delineated more so when it is associated with diverse local and systemic conditions. Its concomitant association with other conditions such as lichen planus, leukoplakia, oral squamous cell carcinoma and OSF is rare, with only three cases of VX associated with OSF reported earlier.
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Extragonadal yolk sac tumor following congenital buccal mature cystic teratoma |
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Nur Rahadiani, Ening Krisnuhoni, Marini Stephanie, Diah Rini Handjari DOI:10.4103/jomfp.JOMFP_127_18 PMID:30967724
Yolk sac tumor (YST) and teratoma both categorized as germ cell tumor (GCT). YST shows preferential differentiation toward yolk sac structures, while teratoma consists of tissues that originate from at least two embryonic germinal layers. Extragonadal location of YST is rare, whereas extragonadal teratoma is majority presented in nasopharynx area. Mature teratoma tends to be benign although some malignant transformation can occur. Recurrence of teratoma was reported mostly in the case of immature teratoma. YST occurrence after removal of mature teratoma is never reported. It is extremely rare for a second GCT to occur at the same site and with a different histological type. We herein report a case of a female infant presented with YST following a congenital buccal mature teratoma.
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Multinodular adult rhabdomyoma in female: A rare case report |
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Shakti Kumar Yadav, Neelam Sood DOI:10.4103/jomfp.JOMFP_4_19 PMID:30967725
Rhabdomyomas are rare benign mesenchymal tumors of striated muscle origin. These are classified as cardiac and extracardiac types. Extracardiac type is further classified as adult, fetal and genital types. Adult rhabdomyoma represents <2% of all muscular tumors. It mostly occurs in adults (median: 60 years). Males are more commonly affected (M:F = 3:1) and usually present as solitary lesion. We report a rare case of multinodular adult rhabdomyoma arising from the floor of the mouth. A 55-year-old female presented with a painless, soft, mobile, nontender and multinodular swelling in the right submandibular region and the floor of the mouth for 2 months. Fine-needle aspiration cytology showed cellular smears of large elongated to round cells with abundant eosinophilic granular cytoplasm, small nuclei and occasionally prominent nucleoli. Histology revealed partially encapsulated lesion showing sheets of large, oval to polygonal cells with abundant deeply eosinophilic and granular cytoplasm, with small peripherally placed nuclei with few cells showing prominent nucleoli. Prominent cytoplasmic vacuolations (periodic acid–Schiff positive) were present. The cells were positive for desmin and myogenin. This case is an extremely rare presentation of multinodular adult rhabdomyoma in a female. The correct identification of this lesion is important to avoid an unnecessarily aggressive resection, yet providing potentially curative therapy.
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CASE REPORTS: ODONTOGENIC ORIGIN |
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Ameloblastic carcinoma ex ameloblastoma of the maxilla |
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Theerachai Kosanwat, Sopee Poomsawat, Rachai Juengsomjit DOI:10.4103/jomfp.JOMFP_116_17 PMID:30967726
Ameloblastic carcinoma (AC) is a rare malignant odontogenic tumor. Approximately 138 cases were reported. The majority of these cases occurred in the mandible. Only 57 cases were located in the maxilla. Most of AC cases occur in a primary type. Little is known about AC secondary type (dedifferentiated) since only six cases have been reported. All of previous six cases occurred in the mandible. Here, we presented the first case of maxillary AC secondary type (dedifferentiated) in a 46-year-old female. The first excisional biopsy was diagnosed as basal cell ameloblastoma. Then, the patient underwent partial maxillectomy. A recurrence occurred 17 months later. At this time, tumor cells with cytological atypia were clearly detected. A diagnosis of AC was rendered. Two years later, the patient suffered from another recurrence and received a wide excision with a diagnosis of AC. We considered our case as AC secondary type (dedifferentiated). We discussed the histopathological findings that may be helpful in making a diagnosis of AC. In addition, we consider that the basaloid pattern may be related to malignant transformation in ameloblastoma.
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Ameloblastic fibroma in a young adult |
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R Mahesh Kumar, Radhika Bavle, N Srinath, DN Umashankar DOI:10.4103/jomfp.JOMFP_37_16 PMID:30967727
Ameloblastic fibroma is a rare mixed odontogenic tumor of the jaw comprising 2.5% of all odontogenic tumors. It is most commonly seen in young adults as a gradually increasing swelling in the jaw. Treatment considered is meticulous enucleation and curettage of surrounding bone. This study presents a case of ameloblastic fibroma in a 15-year-old female patient with a swelling on the right side of the mandible which was managed by enucleation and curettage.
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Dentinogenic ghost cell tumor – A case report and review of literature |
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Smita Bussari, Samantha M Thakur, Ajit V Koshy, Amisha A Shah DOI:10.4103/jomfp.JOMFP_123_18 PMID:30967728
Dentinogenic ghost cell tumor (DGCT) was first described by Praetorius et al. in 1981 and now believed to be the tumor counterpart of the calcifying odontogenic cyst (COC). DGCT is an extremely rare odontogenic tumor and accounts for only 2% to 14% of all COCs. A case of DGCT in a 40-year-old female patient is being reported.
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Ameloblastic carcinoma: A rare case with diagnostic dilemma |
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T Smitha, NS Priya, KN Hema, R Franklin DOI:10.4103/jomfp.JOMFP_318_18 PMID:30967729
Ameloblastic Carcinoma is a rare malignant Odontogenic tumour with characteristic histopathology and clinical features which requires aggressive surgical treatment and surveillance and therefore differs from ameloblastoma. It is possible that ameloblastoma shows a variety of histologic and biologic behaviour ranging from benign to frank malignancy. Cases of ameloblastoma should thus be studied carefully, correlating their histologic pattern with biologic behaviour to direct subtle changes in histology that may predict the aggressiveness of the tumor. Thus the identifying features of Ameloblastic Carcinoma must be carefully known and recognized by dental professionals. The purpose of this article is to report a rare case of Ameloblastic Carcinoma and to highlight the clinical, radiological and variable histological features with possible differential diagnosis.
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Odontogenic keratocyst arising in the maxillary sinus: A rare case report |
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HS Sheethal, Kavita Rao, HS Umadevi, Keerti Chauhan DOI:10.4103/jomfp.JOMFP_319_18 PMID:30967730
Odontogenic keratocyst is an aggressive cystic lesion and a common type of tooth derived cyst due to presence of odontogenic epithelial remnants in different regions of jaw. In majority of cases, it is located in mandibular posterior region. But it can also be found in the maxilla especially in the canine region. We present a rare case of OKC in maxillary sinus which associated with ectopic third molar. Also, it can be easily confused with other lesions of maxillary sinus like sinusitis or antral polyps, which usually resemble symptomatically. There can be malignant transformation of this benign condition towards squamous cell carcinoma or ameloblastoma. So an early and accurate diagnosis of odontogenic keratocyst is a challenge for pathologists.
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Pigmented calcifying cystic odontogenic tumor associated with compound odontoma: Report of a rare case and review |
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BR Premalatha, HS Sreeshyla, Priyanka Nitin, Usha Hegde DOI:10.4103/jomfp.JOMFP_253_17 PMID:30967731
Calcifying cystic odontogenic tumor (CCOT) is a rare lesion accounting for only 2% of all odontogenic cysts and tumors. CCOTs can occur alone or in association with other odontogenic tumors such as odontomas. Pigmented intraosseous odontogenic lesions are rare. Among them, pigmented CCOT is known to occur with greater frequency. Only six cases of combination of pigmentation CCOT associated with odontoma have been reported in the literature. We herein present such a rare case occurring in the maxillary anterior region in a 13-year-old female patient.
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Odontogenic myxoma in an 8-year-old girl: A case report with review of literature |
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Divyesh Wankhedkar, Sangeeta Patankar, S Gokul, Shubhra Sharma DOI:10.4103/jomfp.JOMFP_17_18 PMID:30967732
Aggressive enlargements of maxilla in pediatric patients are uncommon and present with diagnostic and therapeutic dilemma. The decision on therapeutic modality is based on an early and accurate diagnosis, minimizing disease-associated morbidity which is of utmost importance considering the young age and thereby resulting in better prognosis. Odontogenic myxoma is a locally aggressive lesion which is primarily seen in relation to odontogenic apparatus in mandibular posterior region in association with an impacted tooth. This presentation describes a unique case of odontogenic myxoma of anterior maxilla in an 8-year-old girl with emphasis on its diagnosis and treatment planning.
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CASE REPORTS - EPITHELIAL MALIGNANCIES |
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Pseudovascular squamous cell carcinoma with eosinophil-rich stroma |
p. 87 |
Yamil Lopez DOI:10.4103/jomfp.JOMFP_276_18 PMID:30967733
Pseudovascular squamous cell carcinoma (SCC) is a rare variant of SCC characterized by acantholysis and necrosis with preservation of vascular-like cords and spaces mimicking glands or vascular differentiation. Only three cases of this variant in the oral cavity have been reported in the literature. However, none of these cases were eosinophil-rich, which is considered to be a good prognostic indicator for conventional SCC. We report one case of an eosinophil-rich pseudovascular adenoid SCC in the oral cavity. A 38-year-old previously healthy African-American female presented with an enlarging inner left cheek mass with overlying ulcer of 2 months duration. A computed tomography scan with contrast demonstrated a large irregularly outlined peripherally enhancing mass located between the anterior margin of the ramus of the left mandible and maxilla protruding outward. An incisional biopsy was performed followed by a wide local excision 3 weeks later. She recovered well postoperatively but refused to follow-up chemoradiation therapy. Six months later, she presented with altered mental status secondary to hypercalcemia from bony metastases. She was discharged to a hospice facility as per her family's request. Histologic sections of the specimens revealed a diffuse hypercellular pleomorphic ill-circumscribed lesion with extensive necrosis. The viable areas exhibited slit vascular-like spaces and micropapillary architectural patterns with stromal eosinophilia. Focal small cellular nests with features of SCC were present. Immunohistochemistry displayed positivity for vimentin, p53, AE1/AE3 and CAM 5.2 (focally positive). All tumor cells were negative for desmin and CD34.
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Bilateral squamous cell carcinoma of buccal mucosa in a young adult man: A case presentation with review of literature  |
p. 90 |
Saede Atarbashi-Moghadam, Ali Lotfi, Samane Poornaghi, Sepideh Mokhtari DOI:10.4103/jomfp.JOMFP_21_18 PMID:30967734
The control of oral squamous cell carcinoma (SCC) is difficult even after treatment because it has a tendency to multiple primary carcinomas. The incidence of second primary neoplasm in the head and neck region cannot be forecasted reliably. The purpose of this report is to describe the clinicopathological characteristics of a unique case of bilateral buccal mucosal SCC in a 35-year-old male and to determine whether any associated risk factors are present.
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CASE REPORTS - MISCELLANEOUS |
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Mandibular lesion as the first sign of multiple myeloma in a young patient |
p. 94 |
Flavia Sirotheau Correa Pontes, Lucas Lacerda De Souza, Felipe Paiva Fonseca, Helder Antônio Rebelo Pontes DOI:10.4103/jomfp.JOMFP_109_17 PMID:30967735
Multiple myeloma (MM) is a malignant neoplasm characterized by an abnormal intramedullary plasma cell proliferation. It accounts for approximately 10% of all hematologic malignancies. It generally occurs between fourth and seventh decades of life, and it is predominant in male patients. Patients lower than 40 years are considered young, and only very few cases have been reported. We present a rare case of a 27-year-old man whose initial findings of MM were a swelling at the ramus of the mandible.
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Metastatic papillary thyroid carcinoma of the mandible: Case report and literature review |
p. 97 |
Neda Kardouni Khoozestani, Farzaneh Mosavat, Mohammad Shirkhoda, Azin Sedaghati DOI:10.4103/jomfp.JOMFP_106_18 PMID:30967736
The oral cavity is not a usual site for metastasis including about one percent of all oral tumors. Metastatic papillary thyroid carcinoma (PTC) is uncommon and usually occurs in regional lymph nodes of neck, so mandibular metastasis is a rare event. We present a case with swelling in the right mandible that has been diagnosed metastatic tumor of PTC. The clinical features, radiographic aspect and treatment plan are discussed. Furthermore, a thorough review of literature revealed 77 published cases of metastatic thyroid carcinoma to the oral cavity with their summarized features.
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Nonsyphilitic occurrence of mulberry molars: A rare case report |
p. 106 |
Anila Koneru, Santosh Hunasgi, Vardendra Manvikar, M Vanishree DOI:10.4103/jomfp.JOMFP_74_18 PMID:30967737
Developmental defects of enamel may range from slight abnormalities of the tooth's color, shape and size to a complete absence of the enamel. Permanent first molar may show large variations in their morphological features and forms. Such changes may be in the form of anomalous cusps or variations in the occlusal surface showing globular shaped additional cusps and also increased in number of roots. However, to the best of our knowledge, this is the first nonsyphilitic case with the occurrence of multiple globular cusps. In the present case, occlusal anatomy is abnormal, with numerous disorganized globular projections involving all four permanent first molars. The projections of 2 mm × 2 mm in size and globular in shape were seen in the maxillary and mandibular cast. The features resemble the surface of mulberry and hence diagnosed as mulberry molars.
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Cementoblastoma associated with the primary second molar: An unusual case report |
p. 111 |
Balram Garg, Radhika Chavada, Rajeev Pandey, Amit Gupta DOI:10.4103/jomfp.JOMFP_83_18 PMID:30967738
Cementoblastoma is a rare benign odontogenic neoplasm of jaws mostly occurring in younger age group. Here, we present a case of swelling associated with deciduous second molar. Based on the clinical and radiographic features, a provisional diagnosis of cementoblastoma was made. The lesion was surgically removed along with the associated tooth and confirmed as cementoblastoma histopathologically. A 1-year follow-up showed no recurrence.
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An enigma of Gorlin–Goltz syndrome: Two cases reported in mother and daughter |
p. 115 |
Sudipto Sahu, Sushil Sahoo, Rajarshi Banerjee, Sucharu Ghosh DOI:10.4103/jomfp.JOMFP_160_18 PMID:30967739
Gorlin–Goltz syndrome (GGS) also known as the nevoid basal cell carcinoma syndrome or the nevus–Bifid rib syndrome is an inherited autosomal dominant syndrome. It is caused by genetic alteration produced by a mutation in the “patched” tumor suppressor gene. This rare syndrome is characterized by basal cell carcinoma of skin, multiple odontogenic keratocyst and bifid ribs along with other features such as hypertelorism, sex organ abnormalities, palmar and/or plantar pits and calcification of falx cerebri. Early detection and treatment are essential for patients suffering from this syndrome. Only a few cases of this syndrome with familial background have been reported from India. In this study, we present a rare case of GGS in a mother and her daughter. The purpose of this study is to discuss the role of a dentist in early detection and the need for a multidisciplinary approach for the treatment of this syndrome.
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Rhinocerebral mucormycosis associated with actinomycosis in a diabetic patient: A rare presentation  |
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Sanda Usha Rani, Yeluri Sivaranjani, Manchikatla Praveen Kumar, Guttikonda Venkateswara Rao DOI:10.4103/jomfp.JOMFP_77_18 PMID:30967740
Mucormycosis is an opportunistic fulminant fungal infection which mainly affects the immunocompromised individuals. It begins in the nose and paranasal sinuses due to the inhalation of fungal spores. The common predisposing factors include diabetes mellitus and immunosuppression. Actinomycosis is a bacterial infection caused by nonspore-forming, anaerobic or microaerophilic bacterial species of the genus Actinomyces. It is a suppurative and chronic granulomatous disease characterized by abscess formation, tissue fibrosis and draining sinuses rarely diagnosed in humans. A case of rhinocerebral mucormycosis associated with actinomycosis of the maxilla involving the palate in an uncontrolled diabetic patient is reported.
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Association of enamel-renal syndrome with sialolith: A rare entity |
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V Manoj, NC Sandeepa, Manickam Selvamani, Marish Panjami DOI:10.4103/jomfp.JOMFP_9_18 PMID:30967741
Amelogenesis imperfecta (AI) is a disease primarily affecting amelogenesis, but other various aberrations have been reported in association with this entity. Enamel-renal syndrome (ERS) is a very rare disorder associating AI with nephrocalcinosis. It is known by various synonyms such as AI nephrocalcinosis syndrome, MacGibbon syndrome, Lubinsky syndrome and Lubinsky–MacGibbon syndrome. The purposes of this article are to describe other dental anomalies which are rarely associated with AI making the diagnosis of AI a complex disorder and also to report a rare case of MacGibbon syndrome presented with sialolith of submandibular gland duct which is the first reported case in the literature.
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Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations |
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Moni Thakur DOI:10.4103/jomfp.JOMFP_309_18 PMID:30967742
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or Vitamin D metabolism. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of Vitamin D biosynthesis and action, such as Vitamin D-dependent rickets Type 1A, Type 1B, Type 2A (VDDR2A) and Type 2B. The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets). VDDR2A is a rare autosomal recessive disorder caused by mutation in the Vitamin D receptor gene, leading to end-organ resistance to 1,25(OH)2Vitamin D3. It clinically represents growth retardation presenting in the 1st year of life and frequently associated with alopecia totalis, which differentiates it from VDDR Type 1. Due to target organ resistance, its response to Vitamin D is poor. We report two cases of familial VDDR2A, with alopecia and oral manifestations.
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Melanotic neuroectodermal tumor of infancy: A rare entity |
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Preeti Sharma, Amit Kumar Yadav, Surbhi Goyal, Ashish Kumar Mandal DOI:10.4103/jomfp.JOMFP_237_16 PMID:30967743
Melanotic neuroectodermal tumor of infancy (MNTI) is a rare neoplasm with a predilection for the head-and-neck region. Approximately 472 cases reported in literature till date. We report an unusual case of MNTI in a 1-month old child. A 10 cm × 5 cm × 5 cm nontender, firm, deep-seated swelling was seen involving the right zygomatic and maxillary region. Magnetic resonance imaging was suggestive of rhabdomyosarcoma and immunomorphological assessment of the excision specimen revealed the final diagnosis of MNTI. On follow-up, the patient developed recurrence 4 months after surgery and was reoperated. The present case emphasizes that albeit rare, pediatric surgeons and pathologists must always keep in mind the possibility of MNTI while dealing with maxillofacial tumors in infants. Owing to rather nonspecific clinicoradiological features, histopathology supplemented with immunohistochemistry remains the gold standard for diagnosis. Although considered to be a benign tumor, close clinicoradiological follow-up is strongly recommended given the significant risk of recurrence as highlighted by our case.
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